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Blood, 15 December 2005, Vol. 106, No. 13, pp. 4102-4113. Prepublished online as a Blood First Edition Paper on August 18, 2005; DOI 10.1182/blood-2005-03-1060. This Article Full Text Full Text (PDF) All Versions of this Article: 2005-03-1060v1 106/13/4102    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Martelli, F. Articles by Migliaccio, A. R. Search for Related Content PubMed PubMed Citation Articles by Martelli, F. Articles by Migliaccio, A. R. Related Collections Hematopoiesis and Stem Cells Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMATOPOIESIS Variegation of the phenotype induced by the Gata1low mutation in mice of different genetic backgrounds Fabrizio Martelli, Barbara Ghinassi, Barbara Panetta, Elena Alfani, Valentina Gatta, Alessandro Pancrazzi, Costanza Bogani, Alessandro Maria Vannucchi, Francesco Paoletti, Giovanni Migliaccio, and Anna Rita Migliaccio From the Departments of Hematology, Oncology and Molecular Medicine, and Cell Biology and Neurosciences, Istituto Superiore Sanità, Rome, Italy; Biomorphology and Medical Genetics, University G. D'Annunzio, Chieti, Italy; Hematology, Azienda Ospedaliera Careggi, Florence, Italy; Oncology and Experimental Pathology, University of Florence, Italy; and Pathology, University of Illinois at Chicago, Chicago, IL. All mice harboring the X-linked Gata1low mutation in a predominantly CD1 background are born anemic and thrombocytopenic. They recover from anemia at 1 month of age but remain thrombocytopenic all their life and develop myelofibrosis, a syndrome similar to human idiopathic myelofibrosis, at 12 months. The effects of the genetic background on the myelofibrosis developed by Gata1low mice was assessed by introducing the mutation, by standard genetic approaches, in the C57BL/6 and DBA/2 backgrounds and by analyzing the phenotype of the different mutants at 12 to 13 (by histology) and 16 to 20 (by cytofluorimetry) months of age. Although all the Gata1low mice developed fibrosis at 12 to 13 months, variegations were observed in the severity of the phenotype expressed by mutants of different backgrounds. In C57BL/6 mice, the mutation was no longer inherited in a Mendelian fashion, and fibrosis was associated with massive osteosclerosis. Instead, DBA/2 mutants, although severely anemic, expressed limited fibrosis and osteosclerosis and did not present tear-drop poikilocytes in blood or extramedullary hemopoiesis in liver up to 20 months of age. We propose that the variegation in myelofibrosis expressed by Gata1low mutants of different strains might represent a model to study the variability of the clinical picture of the human disease. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. L. Carmichael, I. J. Majewski, W. S. Alexander, D. Metcalf, D. J. Hilton, C. A. Hewitt, and H. S. Scott Hematopoietic defects in the Ts1Cje mouse model of Down syndrome Blood, February 26, 2009; 113(9): 1929 - 1937. [Abstract] [Full Text] [PDF] B. Ghinassi, M. Sanchez, F. Martelli, G. Amabile, A. M. Vannucchi, G. Migliaccio, S. H. Orkin, and A. R. Migliaccio The hypomorphic Gata1low mutation alters the proliferation/differentiation potential of the common megakaryocytic-erythroid progenitor Blood, February 15, 2007; 109(4): 1460 - 1471. [Abstract] [Full Text] [PDF]

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